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Entry Name Description Category Pathway Gene
H02213 Familial adult myoclonic epilepsy
Benign adult familial myoclonic epilepsy
... and dementia. It has been suggested that abnormal expansions of TTTCA and TTTTA repeats in introns of SAMD12, TNRC6A and RAPGEF2 cause this disease. Recently, Autosomal recessive form with a mutation in ... Nervous system disease (FAME1) SAMD12 [HSA:401474]
(FAME2) STARD7 [HSA:56910] [KO:K24141]
(FAME3) MARCH6 [HSA:10299] [KO:K10661]
(FAME4) YEATS2 [HSA:55689] [KO:K24539]
(FAME5) CNTN2 [HSA:6900] [KO:K06760]
(FAME6) TNRC6A [HSA:27327] [KO:K18412]
(FAME7) RAPGEF2 [HSA:9693] [KO:K08018]
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